SNP Links for Gene (Select 100188847) - SNP

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Select item 14912365091.

rs1491236509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGCTGCCGGG [Show Flanks]
Chromosome:: 16:2091322 (GRCh38)
16:2141324 (GRCh37)
Canonical SPDI:: NC_000016.10:2091322:CGGG:CGGGACGCTGCCGGG
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: CGGGACGCTGC=0.000024/3 (GnomAD)
HGVS:: NC_000016.10:g.2091326_2091327insACGCTGCCGGG, NC_000016.9:g.2141327_2141328insACGCTGCCGGG, NG_008617.1:g.51898_51899insGCAGCGTCCCG

Select item 14912272782.

rs1491227278 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>- [Show Flanks]
Chromosome:: 16:2091323 (GRCh38)
16:2141324 (GRCh37)
Canonical SPDI:: NC_000016.10:2091321:GCG:G
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2091323_2091324del, NC_000016.9:g.2141324_2141325del, NG_008617.1:g.51898_51899del

Select item 14901526023.

rs1490152602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2090607 (GRCh38)
16:2140608 (GRCh37)
Canonical SPDI:: NC_000016.10:2090606:A:G
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2090607A>G, NC_000016.9:g.2140608A>G, NG_008617.1:g.52614T>C, NG_005895.1:g.46302A>G

Select item 14900552514.

rs1490055251 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:2090929 (GRCh38)
16:2140930 (GRCh37)
Canonical SPDI:: NC_000016.10:2090928:T:G
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2090929T>G, NC_000016.9:g.2140930T>G, NG_008617.1:g.52292A>C, NM_000296.4:c.11955A>C, NM_000296.3:c.11955A>C, NM_001009944.3:c.11958A>C, NM_001009944.2:c.11958A>C, NG_005895.1:g.46624T>G, XM_011522528.4:c.12012A>C, XM_011522528.3:c.12012A>C, XM_011522528.2:c.12012A>C, XM_011522528.1:c.12012A>C, XM_005255370.4:c.8913A>C, XM_005255370.3:c.8913A>C, XM_005255370.2:c.8913A>C, XM_005255370.1:c.8913A>C, XM_011522529.3:c.12009A>C, XM_011522529.2:c.12009A>C, XM_011522529.1:c.12009A>C, XM_011522537.2:c.9036A>C, XM_011522537.1:c.9036A>C, XM_047434210.1:c.11940A>C, XM_047434208.1:c.12093A>C, XM_047434209.1:c.12021A>C, XM_047434211.1:c.11883A>C, XM_047434212.1:c.10053A>C, XM_047434213.1:c.9030A>C

Select item 14899876945.

rs1489987694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:2090462 (GRCh38)
16:2140463 (GRCh37)
Canonical SPDI:: NC_000016.10:2090461:C:G
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.2090462C>G, NC_000016.9:g.2140463C>G, NG_008617.1:g.52759G>C, NM_000296.4:c.12264G>C, NM_000296.3:c.12264G>C, NM_001009944.3:c.12267G>C, NM_001009944.2:c.12267G>C, NG_005895.1:g.46157C>G, XM_011522528.4:c.12321G>C, XM_011522528.3:c.12321G>C, XM_011522528.2:c.12321G>C, XM_011522528.1:c.12321G>C, XM_005255370.4:c.9222G>C, XM_005255370.3:c.9222G>C, XM_005255370.2:c.9222G>C, XM_005255370.1:c.9222G>C, XM_011522529.3:c.12318G>C, XM_011522529.2:c.12318G>C, XM_011522529.1:c.12318G>C, XM_011522537.2:c.9345G>C, XM_011522537.1:c.9345G>C, XM_047434210.1:c.12249G>C, XM_047434208.1:c.12402G>C, XM_047434209.1:c.12330G>C, XM_047434211.1:c.12192G>C, XM_047434212.1:c.10362G>C, XM_047434213.1:c.9339G>C

Select item 14898908856.

rs1489890885 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:2090780 (GRCh38)
16:2140781 (GRCh37)
Canonical SPDI:: NC_000016.10:2090779:T:G
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2090780T>G, NC_000016.9:g.2140781T>G, NG_008617.1:g.52441A>C, NM_000296.4:c.12029A>C, NM_000296.3:c.12029A>C, NM_001009944.3:c.12032A>C, NM_001009944.2:c.12032A>C, NG_005895.1:g.46475T>G, XM_011522528.4:c.12086A>C, XM_011522528.3:c.12086A>C, XM_011522528.2:c.12086A>C, XM_011522528.1:c.12086A>C, XM_005255370.4:c.8987A>C, XM_005255370.3:c.8987A>C, XM_005255370.2:c.8987A>C, XM_005255370.1:c.8987A>C, XM_011522529.3:c.12083A>C, XM_011522529.2:c.12083A>C, XM_011522529.1:c.12083A>C, XM_011522537.2:c.9110A>C, XM_011522537.1:c.9110A>C, XM_047434210.1:c.12014A>C, XM_047434208.1:c.12167A>C, XM_047434209.1:c.12095A>C, XM_047434211.1:c.11957A>C, XM_047434212.1:c.10127A>C, XM_047434213.1:c.9104A>C, NP_000287.4:p.Gln4010Pro, NP_001009944.3:p.Gln4011Pro, XP_011520830.1:p.Gln4029Pro, XP_005255427.1:p.Gln2996Pro, XP_011520831.1:p.Gln4028Pro, XP_011520839.1:p.Gln3037Pro, XP_047290166.1:p.Gln4005Pro, XP_047290164.1:p.Gln4056Pro, XP_047290165.1:p.Gln4032Pro, XP_047290167.1:p.Gln3986Pro, XP_047290168.1:p.Gln3376Pro, XP_047290169.1:p.Gln3035Pro

Select item 14893381537.

rs1489338153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:2091107 (GRCh38)
16:2141108 (GRCh37)
Canonical SPDI:: NC_000016.10:2091106:C:A,NC_000016.10:2091106:C:T
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000028/3 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.2091107C>A, NC_000016.10:g.2091107C>T, NC_000016.9:g.2141108C>A, NC_000016.9:g.2141108C>T, NG_008617.1:g.52114G>T, NG_008617.1:g.52114G>A, NM_000296.4:c.11777G>T, NM_000296.4:c.11777G>A, NM_000296.3:c.11777G>T, NM_000296.3:c.11777G>A, NM_001009944.3:c.11780G>T, NM_001009944.3:c.11780G>A, NM_001009944.2:c.11780G>T, NM_001009944.2:c.11780G>A, NG_005895.1:g.46802C>A, NG_005895.1:g.46802C>T, XM_011522528.4:c.11834G>T, XM_011522528.4:c.11834G>A, XM_011522528.3:c.11834G>T, XM_011522528.3:c.11834G>A, XM_011522528.2:c.11834G>T, XM_011522528.2:c.11834G>A, XM_011522528.1:c.11834G>T, XM_011522528.1:c.11834G>A, XM_005255370.4:c.8735G>T, XM_005255370.4:c.8735G>A, XM_005255370.3:c.8735G>T, XM_005255370.3:c.8735G>A, XM_005255370.2:c.8735G>T, XM_005255370.2:c.8735G>A, XM_005255370.1:c.8735G>T, XM_005255370.1:c.8735G>A, XM_011522529.3:c.11831G>T, XM_011522529.3:c.11831G>A, XM_011522529.2:c.11831G>T, XM_011522529.2:c.11831G>A, XM_011522529.1:c.11831G>T, XM_011522529.1:c.11831G>A, XM_011522537.2:c.8858G>T, XM_011522537.2:c.8858G>A, XM_011522537.1:c.8858G>T, XM_011522537.1:c.8858G>A, XM_047434210.1:c.11762G>T, XM_047434210.1:c.11762G>A, XM_047434208.1:c.11915G>T, XM_047434208.1:c.11915G>A, XM_047434209.1:c.11843G>T, XM_047434209.1:c.11843G>A, XM_047434211.1:c.11705G>T, XM_047434211.1:c.11705G>A, XM_047434212.1:c.9875G>T, XM_047434212.1:c.9875G>A, XM_047434213.1:c.8852G>T, XM_047434213.1:c.8852G>A, NP_000287.4:p.Arg3926Leu, NP_000287.4:p.Arg3926His, NP_001009944.3:p.Arg3927Leu, NP_001009944.3:p.Arg3927His, XP_011520830.1:p.Arg3945Leu, XP_011520830.1:p.Arg3945His, XP_005255427.1:p.Arg2912Leu, XP_005255427.1:p.Arg2912His, XP_011520831.1:p.Arg3944Leu, XP_011520831.1:p.Arg3944His, XP_011520839.1:p.Arg2953Leu, XP_011520839.1:p.Arg2953His, XP_047290166.1:p.Arg3921Leu, XP_047290166.1:p.Arg3921His, XP_047290164.1:p.Arg3972Leu, XP_047290164.1:p.Arg3972His, XP_047290165.1:p.Arg3948Leu, XP_047290165.1:p.Arg3948His, XP_047290167.1:p.Arg3902Leu, XP_047290167.1:p.Arg3902His, XP_047290168.1:p.Arg3292Leu, XP_047290168.1:p.Arg3292His, XP_047290169.1:p.Arg2951Leu, XP_047290169.1:p.Arg2951His

Select item 14887241548.

rs1488724154 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2089920 (GRCh38)
16:2139921 (GRCh37)
Canonical SPDI:: NC_000016.10:2089919:T:C
Gene:: PKD1 (Varview), TSC2 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2089920T>C, NC_000016.9:g.2139921T>C, NG_008617.1:g.53301A>G, NM_000296.4:c.12716A>G, NM_000296.3:c.12716A>G, NM_001009944.3:c.12719A>G, NM_001009944.2:c.12719A>G, NG_005895.1:g.45615T>C, XM_011522528.4:c.12773A>G, XM_011522528.3:c.12773A>G, XM_011522528.2:c.12773A>G, XM_011522528.1:c.12773A>G, XM_005255370.4:c.9674A>G, XM_005255370.3:c.9674A>G, XM_005255370.2:c.9674A>G, XM_005255370.1:c.9674A>G, XM_011522529.3:c.12770A>G, XM_011522529.2:c.12770A>G, XM_011522529.1:c.12770A>G, XM_011522537.2:c.9797A>G, XM_011522537.1:c.9797A>G, XM_047434210.1:c.12701A>G, XM_047434208.1:c.12854A>G, XM_047434209.1:c.12782A>G, XM_047434211.1:c.12644A>G, XM_047434212.1:c.10814A>G, XM_047434213.1:c.9791A>G, NP_000287.4:p.Glu4239Gly, NP_001009944.3:p.Glu4240Gly, XP_011520830.1:p.Glu4258Gly, XP_005255427.1:p.Glu3225Gly, XP_011520831.1:p.Glu4257Gly, XP_011520839.1:p.Glu3266Gly, XP_047290166.1:p.Glu4234Gly, XP_047290164.1:p.Glu4285Gly, XP_047290165.1:p.Glu4261Gly, XP_047290167.1:p.Glu4215Gly, XP_047290168.1:p.Glu3605Gly, XP_047290169.1:p.Glu3264Gly

Select item 14882567179.

rs1488256717 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCCTACGAGGGGGCGGG>- [Show Flanks]
Chromosome:: 16:2091257 (GRCh38)
16:2141258 (GRCh37)
Canonical SPDI:: NC_000016.10:2091248:GGGGCGGGGCCCTACGAGGGGGCGGG:GGGGCGGG
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGCGGG=0./0 (ALFA)
HGVS:: NC_000016.10:g.2091257_2091274del, NC_000016.9:g.2141258_2141275del, NG_008617.1:g.51955_51972del

Select item 148787045110.

rs1487870451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2091501 (GRCh38)
16:2141502 (GRCh37)
Canonical SPDI:: NC_000016.10:2091500:G:A
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2091501G>A, NC_000016.9:g.2141502G>A, NG_008617.1:g.51720C>T, NM_000296.4:c.11631C>T, NM_000296.3:c.11631C>T, NM_001009944.3:c.11634C>T, NM_001009944.2:c.11634C>T, XM_011522528.4:c.11688C>T, XM_011522528.3:c.11688C>T, XM_011522528.2:c.11688C>T, XM_011522528.1:c.11688C>T, XM_005255370.4:c.8589C>T, XM_005255370.3:c.8589C>T, XM_005255370.2:c.8589C>T, XM_005255370.1:c.8589C>T, XM_011522529.3:c.11685C>T, XM_011522529.2:c.11685C>T, XM_011522529.1:c.11685C>T, XM_011522537.2:c.8712C>T, XM_011522537.1:c.8712C>T, XM_047434210.1:c.11616C>T, XM_047434208.1:c.11769C>T, XM_047434209.1:c.11697C>T, XM_047434211.1:c.11559C>T, XM_047434212.1:c.9729C>T, XM_047434213.1:c.8706C>T, NR_135175.1:n.66G>A

Select item 148711112311.

rs1487111123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2090750 (GRCh38)
16:2140751 (GRCh37)
Canonical SPDI:: NC_000016.10:2090749:C:T
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2090750C>T, NC_000016.9:g.2140751C>T, NG_008617.1:g.52471G>A, NM_000296.4:c.12059G>A, NM_000296.3:c.12059G>A, NM_001009944.3:c.12062G>A, NM_001009944.2:c.12062G>A, NG_005895.1:g.46445C>T, XM_011522528.4:c.12116G>A, XM_011522528.3:c.12116G>A, XM_011522528.2:c.12116G>A, XM_011522528.1:c.12116G>A, XM_005255370.4:c.9017G>A, XM_005255370.3:c.9017G>A, XM_005255370.2:c.9017G>A, XM_005255370.1:c.9017G>A, XM_011522529.3:c.12113G>A, XM_011522529.2:c.12113G>A, XM_011522529.1:c.12113G>A, XM_011522537.2:c.9140G>A, XM_011522537.1:c.9140G>A, XM_047434210.1:c.12044G>A, XM_047434208.1:c.12197G>A, XM_047434209.1:c.12125G>A, XM_047434211.1:c.11987G>A, XM_047434212.1:c.10157G>A, XM_047434213.1:c.9134G>A, NP_000287.4:p.Arg4020Gln, NP_001009944.3:p.Arg4021Gln, XP_011520830.1:p.Arg4039Gln, XP_005255427.1:p.Arg3006Gln, XP_011520831.1:p.Arg4038Gln, XP_011520839.1:p.Arg3047Gln, XP_047290166.1:p.Arg4015Gln, XP_047290164.1:p.Arg4066Gln, XP_047290165.1:p.Arg4042Gln, XP_047290167.1:p.Arg3996Gln, XP_047290168.1:p.Arg3386Gln, XP_047290169.1:p.Arg3045Gln

Select item 148605198012.

rs1486051980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:2091636 (GRCh38)
16:2141637 (GRCh37)
Canonical SPDI:: NC_000016.10:2091635:G:A,NC_000016.10:2091635:G:T
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2091636G>A, NC_000016.10:g.2091636G>T, NC_000016.9:g.2141637G>A, NC_000016.9:g.2141637G>T, NG_008617.1:g.51585C>T, NG_008617.1:g.51585C>A

Select item 148477771113.

rs1484777711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:2090461 (GRCh38)
16:2140462 (GRCh37)
Canonical SPDI:: NC_000016.10:2090460:G:A,NC_000016.10:2090460:G:T
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.2090461G>A, NC_000016.10:g.2090461G>T, NC_000016.9:g.2140462G>A, NC_000016.9:g.2140462G>T, NG_008617.1:g.52760C>T, NG_008617.1:g.52760C>A, NM_000296.4:c.12265C>T, NM_000296.4:c.12265C>A, NM_000296.3:c.12265C>T, NM_000296.3:c.12265C>A, NM_001009944.3:c.12268C>T, NM_001009944.3:c.12268C>A, NM_001009944.2:c.12268C>T, NM_001009944.2:c.12268C>A, NG_005895.1:g.46156G>A, NG_005895.1:g.46156G>T, XM_011522528.4:c.12322C>T, XM_011522528.4:c.12322C>A, XM_011522528.3:c.12322C>T, XM_011522528.3:c.12322C>A, XM_011522528.2:c.12322C>T, XM_011522528.2:c.12322C>A, XM_011522528.1:c.12322C>T, XM_011522528.1:c.12322C>A, XM_005255370.4:c.9223C>T, XM_005255370.4:c.9223C>A, XM_005255370.3:c.9223C>T, XM_005255370.3:c.9223C>A, XM_005255370.2:c.9223C>T, XM_005255370.2:c.9223C>A, XM_005255370.1:c.9223C>T, XM_005255370.1:c.9223C>A, XM_011522529.3:c.12319C>T, XM_011522529.3:c.12319C>A, XM_011522529.2:c.12319C>T, XM_011522529.2:c.12319C>A, XM_011522529.1:c.12319C>T, XM_011522529.1:c.12319C>A, XM_011522537.2:c.9346C>T, XM_011522537.2:c.9346C>A, XM_011522537.1:c.9346C>T, XM_011522537.1:c.9346C>A, XM_047434210.1:c.12250C>T, XM_047434210.1:c.12250C>A, XM_047434208.1:c.12403C>T, XM_047434208.1:c.12403C>A, XM_047434209.1:c.12331C>T, XM_047434209.1:c.12331C>A, XM_047434211.1:c.12193C>T, XM_047434211.1:c.12193C>A, XM_047434212.1:c.10363C>T, XM_047434212.1:c.10363C>A, XM_047434213.1:c.9340C>T, XM_047434213.1:c.9340C>A, NP_000287.4:p.Leu4089Phe, NP_000287.4:p.Leu4089Ile, NP_001009944.3:p.Leu4090Phe, NP_001009944.3:p.Leu4090Ile, XP_011520830.1:p.Leu4108Phe, XP_011520830.1:p.Leu4108Ile, XP_005255427.1:p.Leu3075Phe, XP_005255427.1:p.Leu3075Ile, XP_011520831.1:p.Leu4107Phe, XP_011520831.1:p.Leu4107Ile, XP_011520839.1:p.Leu3116Phe, XP_011520839.1:p.Leu3116Ile, XP_047290166.1:p.Leu4084Phe, XP_047290166.1:p.Leu4084Ile, XP_047290164.1:p.Leu4135Phe, XP_047290164.1:p.Leu4135Ile, XP_047290165.1:p.Leu4111Phe, XP_047290165.1:p.Leu4111Ile, XP_047290167.1:p.Leu4065Phe, XP_047290167.1:p.Leu4065Ile, XP_047290168.1:p.Leu3455Phe, XP_047290168.1:p.Leu3455Ile, XP_047290169.1:p.Leu3114Phe, XP_047290169.1:p.Leu3114Ile

Select item 148450652714.

rs1484506527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2089837 (GRCh38)
16:2139838 (GRCh37)
Canonical SPDI:: NC_000016.10:2089836:G:A
Gene:: PKD1 (Varview), TSC2 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2089837G>A, NC_000016.9:g.2139838G>A, NG_008617.1:g.53384C>T, NM_000296.4:c.12799C>T, NM_000296.3:c.12799C>T, NM_001009944.3:c.12802C>T, NM_001009944.2:c.12802C>T, NG_005895.1:g.45532G>A, XM_011522528.4:c.12856C>T, XM_011522528.3:c.12856C>T, XM_011522528.2:c.12856C>T, XM_011522528.1:c.12856C>T, XM_005255370.4:c.9757C>T, XM_005255370.3:c.9757C>T, XM_005255370.2:c.9757C>T, XM_005255370.1:c.9757C>T, XM_011522529.3:c.12853C>T, XM_011522529.2:c.12853C>T, XM_011522529.1:c.12853C>T, XM_011522537.2:c.9880C>T, XM_011522537.1:c.9880C>T, XM_047434210.1:c.12784C>T, XM_047434208.1:c.12937C>T, XM_047434209.1:c.12865C>T, XM_047434211.1:c.12727C>T, XM_047434212.1:c.10897C>T, XM_047434213.1:c.9874C>T, NP_000287.4:p.Pro4267Ser, NP_001009944.3:p.Pro4268Ser, XP_011520830.1:p.Pro4286Ser, XP_005255427.1:p.Pro3253Ser, XP_011520831.1:p.Pro4285Ser, XP_011520839.1:p.Pro3294Ser, XP_047290166.1:p.Pro4262Ser, XP_047290164.1:p.Pro4313Ser, XP_047290165.1:p.Pro4289Ser, XP_047290167.1:p.Pro4243Ser, XP_047290168.1:p.Pro3633Ser, XP_047290169.1:p.Pro3292Ser

Select item 148385494715.

rs1483854947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2091576 (GRCh38)
16:2141577 (GRCh37)
Canonical SPDI:: NC_000016.10:2091575:C:T
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2091576C>T, NC_000016.9:g.2141577C>T, NG_008617.1:g.51645G>A, NM_000296.4:c.11556G>A, NM_000296.3:c.11556G>A, NM_001009944.3:c.11559G>A, NM_001009944.2:c.11559G>A, XM_011522528.4:c.11613G>A, XM_011522528.3:c.11613G>A, XM_011522528.2:c.11613G>A, XM_011522528.1:c.11613G>A, XM_005255370.4:c.8514G>A, XM_005255370.3:c.8514G>A, XM_005255370.2:c.8514G>A, XM_005255370.1:c.8514G>A, XM_011522529.3:c.11610G>A, XM_011522529.2:c.11610G>A, XM_011522529.1:c.11610G>A, XM_011522537.2:c.8637G>A, XM_011522537.1:c.8637G>A, XM_047434210.1:c.11541G>A, XM_047434208.1:c.11694G>A, XM_047434209.1:c.11622G>A, XM_047434211.1:c.11484G>A, XM_047434212.1:c.9654G>A, XM_047434213.1:c.8631G>A, NR_135175.1:n.141C>T

Select item 148382654916.

rs1483826549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:2091067 (GRCh38)
16:2141068 (GRCh37)
Canonical SPDI:: NC_000016.10:2091066:C:A
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2091067C>A, NC_000016.9:g.2141068C>A, NG_008617.1:g.52154G>T, NM_000296.4:c.11817G>T, NM_000296.3:c.11817G>T, NM_001009944.3:c.11820G>T, NM_001009944.2:c.11820G>T, NG_005895.1:g.46762C>A, XM_011522528.4:c.11874G>T, XM_011522528.3:c.11874G>T, XM_011522528.2:c.11874G>T, XM_011522528.1:c.11874G>T, XM_005255370.4:c.8775G>T, XM_005255370.3:c.8775G>T, XM_005255370.2:c.8775G>T, XM_005255370.1:c.8775G>T, XM_011522529.3:c.11871G>T, XM_011522529.2:c.11871G>T, XM_011522529.1:c.11871G>T, XM_011522537.2:c.8898G>T, XM_011522537.1:c.8898G>T, XM_047434210.1:c.11802G>T, XM_047434208.1:c.11955G>T, XM_047434209.1:c.11883G>T, XM_047434211.1:c.11745G>T, XM_047434212.1:c.9915G>T, XM_047434213.1:c.8892G>T

Select item 148325622517.

rs1483256225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:2091440 (GRCh38)
16:2141441 (GRCh37)
Canonical SPDI:: NC_000016.10:2091439:G:C
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2091440G>C, NC_000016.9:g.2141441G>C, NG_008617.1:g.51781C>G, NM_000296.4:c.11692C>G, NM_000296.3:c.11692C>G, NM_001009944.3:c.11695C>G, NM_001009944.2:c.11695C>G, XM_011522528.4:c.11749C>G, XM_011522528.3:c.11749C>G, XM_011522528.2:c.11749C>G, XM_011522528.1:c.11749C>G, XM_005255370.4:c.8650C>G, XM_005255370.3:c.8650C>G, XM_005255370.2:c.8650C>G, XM_005255370.1:c.8650C>G, XM_011522529.3:c.11746C>G, XM_011522529.2:c.11746C>G, XM_011522529.1:c.11746C>G, XM_011522537.2:c.8773C>G, XM_011522537.1:c.8773C>G, XM_047434210.1:c.11677C>G, XM_047434208.1:c.11830C>G, XM_047434209.1:c.11758C>G, XM_047434211.1:c.11620C>G, XM_047434212.1:c.9790C>G, XM_047434213.1:c.8767C>G, NR_135175.1:n.5G>C, NP_000287.4:p.Leu3898Val, NP_001009944.3:p.Leu3899Val, XP_011520830.1:p.Leu3917Val, XP_005255427.1:p.Leu2884Val, XP_011520831.1:p.Leu3916Val, XP_011520839.1:p.Leu2925Val, XP_047290166.1:p.Leu3893Val, XP_047290164.1:p.Leu3944Val, XP_047290165.1:p.Leu3920Val, XP_047290167.1:p.Leu3874Val, XP_047290168.1:p.Leu3264Val, XP_047290169.1:p.Leu2923Val

Select item 148207286418.

rs1482072864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2090368 (GRCh38)
16:2140369 (GRCh37)
Canonical SPDI:: NC_000016.10:2090367:C:T
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2090368C>T, NC_000016.9:g.2140369C>T, NG_008617.1:g.52853G>A, NM_000296.4:c.12358G>A, NM_000296.3:c.12358G>A, NM_001009944.3:c.12361G>A, NM_001009944.2:c.12361G>A, NG_005895.1:g.46063C>T, XM_011522528.4:c.12415G>A, XM_011522528.3:c.12415G>A, XM_011522528.2:c.12415G>A, XM_011522528.1:c.12415G>A, XM_005255370.4:c.9316G>A, XM_005255370.3:c.9316G>A, XM_005255370.2:c.9316G>A, XM_005255370.1:c.9316G>A, XM_011522529.3:c.12412G>A, XM_011522529.2:c.12412G>A, XM_011522529.1:c.12412G>A, XM_011522537.2:c.9439G>A, XM_011522537.1:c.9439G>A, XM_047434210.1:c.12343G>A, XM_047434208.1:c.12496G>A, XM_047434209.1:c.12424G>A, XM_047434211.1:c.12286G>A, XM_047434212.1:c.10456G>A, XM_047434213.1:c.9433G>A, NP_000287.4:p.Ala4120Thr, NP_001009944.3:p.Ala4121Thr, XP_011520830.1:p.Ala4139Thr, XP_005255427.1:p.Ala3106Thr, XP_011520831.1:p.Ala4138Thr, XP_011520839.1:p.Ala3147Thr, XP_047290166.1:p.Ala4115Thr, XP_047290164.1:p.Ala4166Thr, XP_047290165.1:p.Ala4142Thr, XP_047290167.1:p.Ala4096Thr, XP_047290168.1:p.Ala3486Thr, XP_047290169.1:p.Ala3145Thr

Select item 147981627519.

rs1479816275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:2090907 (GRCh38)
16:2140908 (GRCh37)
Canonical SPDI:: NC_000016.10:2090906:G:A,NC_000016.10:2090906:G:C
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000016.10:g.2090907G>A, NC_000016.10:g.2090907G>C, NC_000016.9:g.2140908G>A, NC_000016.9:g.2140908G>C, NG_008617.1:g.52314C>T, NG_008617.1:g.52314C>G, NM_000296.4:c.11977C>T, NM_000296.4:c.11977C>G, NM_000296.3:c.11977C>T, NM_000296.3:c.11977C>G, NM_001009944.3:c.11980C>T, NM_001009944.3:c.11980C>G, NM_001009944.2:c.11980C>T, NM_001009944.2:c.11980C>G, NG_005895.1:g.46602G>A, NG_005895.1:g.46602G>C, XM_011522528.4:c.12034C>T, XM_011522528.4:c.12034C>G, XM_011522528.3:c.12034C>T, XM_011522528.3:c.12034C>G, XM_011522528.2:c.12034C>T, XM_011522528.2:c.12034C>G, XM_011522528.1:c.12034C>T, XM_011522528.1:c.12034C>G, XM_005255370.4:c.8935C>T, XM_005255370.4:c.8935C>G, XM_005255370.3:c.8935C>T, XM_005255370.3:c.8935C>G, XM_005255370.2:c.8935C>T, XM_005255370.2:c.8935C>G, XM_005255370.1:c.8935C>T, XM_005255370.1:c.8935C>G, XM_011522529.3:c.12031C>T, XM_011522529.3:c.12031C>G, XM_011522529.2:c.12031C>T, XM_011522529.2:c.12031C>G, XM_011522529.1:c.12031C>T, XM_011522529.1:c.12031C>G, XM_011522537.2:c.9058C>T, XM_011522537.2:c.9058C>G, XM_011522537.1:c.9058C>T, XM_011522537.1:c.9058C>G, XM_047434210.1:c.11962C>T, XM_047434210.1:c.11962C>G, XM_047434208.1:c.12115C>T, XM_047434208.1:c.12115C>G, XM_047434209.1:c.12043C>T, XM_047434209.1:c.12043C>G, XM_047434211.1:c.11905C>T, XM_047434211.1:c.11905C>G, XM_047434212.1:c.10075C>T, XM_047434212.1:c.10075C>G, XM_047434213.1:c.9052C>T, XM_047434213.1:c.9052C>G, NP_000287.4:p.Leu3993Val, NP_001009944.3:p.Leu3994Val, XP_011520830.1:p.Leu4012Val, XP_005255427.1:p.Leu2979Val, XP_011520831.1:p.Leu4011Val, XP_011520839.1:p.Leu3020Val, XP_047290166.1:p.Leu3988Val, XP_047290164.1:p.Leu4039Val, XP_047290165.1:p.Leu4015Val, XP_047290167.1:p.Leu3969Val, XP_047290168.1:p.Leu3359Val, XP_047290169.1:p.Leu3018Val

Select item 147889038020.

rs1478890380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2091645 (GRCh38)
16:2141646 (GRCh37)
Canonical SPDI:: NC_000016.10:2091644:T:C
Gene:: PKD1 (Varview), MIR1225 (Varview), PKD1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000016.10:g.2091645T>C, NC_000016.9:g.2141646T>C, NG_008617.1:g.51576A>G

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